{"id":"W1995969813","doi":"10.1097/01.gim.0000195892.60506.3f","title":"Deletion of chromosome 21 disturbs human brain morphogenesis","year":2006,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":74,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's & Women's Health Centre of British Columbia; University of British Columbia; Alberta Children's Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health","keywords":"Microcephaly; Polymicrogyria; Biology; Corpus callosum; Cortical dysplasia; Pachygyria; Chromosome 21; Chromosome; Lissencephaly; White matter; Genetics; Epilepsy; Neuroscience; Gene; Magnetic resonance imaging; Medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002177316,0.0007629007,0.0005573914,0.001571301,0.0005087992,0.0003570549,0.0005066594,0.0007124012,0.002750221],"category_scores_gemma":[0.001010601,0.0003931487,0.0003067343,0.0008287379,0.0009002005,0.0003030352,0.0006909358,0.0006514092,0.0005586522],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002571947,"about_ca_system_score_gemma":0.0002837045,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0010095,"about_ca_topic_score_gemma":0.0009771158,"domain_scores_codex":[0.9996151,0.0001069926,0.00005048006,0.00008332205,0.00009711949,0.00004688551],"domain_scores_gemma":[0.999326,0.0002801177,0.0001933005,0.00007254798,0.00004003997,0.00008805136],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0008962775,0.00006496644,0.007039563,0.0001062312,0.0001136796,0.01144541,0.0001387756,0.0009502369,0.9675655,0.001460498,0.000323407,0.009895352],"study_design_scores_gemma":[0.00009129156,0.0004975523,0.09297133,0.00002219574,0.0004056166,0.04305446,0.0002425425,0.00225614,0.8505481,0.001213524,0.008633895,0.00006340985],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9918549,0.001553563,0.002779711,0.0002329566,0.00007701504,0.00002383768,0.0005950723,0.0001601888,0.002722815],"genre_scores_gemma":[0.9971578,0.0007496198,0.0006813101,0.00003539277,0.00002166541,0.00001081455,0.0003044474,0.00004366549,0.0009952959],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002750221,"threshold_uncertainty_score":0.009200394,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009236718797278507,"score_gpt":0.248518478888703,"score_spread":0.2392817600914245,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}